Néphrologie pédiatrique

Thématiques de recherche :

• Maladies hépatiques et digestives de l'enfant (J. SARLES, B. ROQUELAURE, C. ROMAN, A. FABRE)
• Mucoviscidose (J. SARLES)
• Maladies rénales de l'enfant et transplantation (D. BRUNO, F. GARAIX, M. CAILLEZ, M. TSIMARATOS)
• Maladies endocriniennes de l'enfant (G. SIMONIN, R. REYNAUD)
• Déficits hypophysaires congénitaux (R.REYNAUD)
• Dépistage néonatal (J. SARLES)

Laboratoires de rattachement :

• INSERM UMR S 910 (Pr N. Levy) : A. FABRE
• CNRS UPR 9025 : J. SARLES
• CNRS - UMR 6231 - Neurobiologie et neurophysiologie(IFR Jean Roche)  R. REYNAUD

Publications :

• Cherqaoui A, Haddad M, Roman C, Gorincour G, Marti JY, Bonnard A, Guys JM, de Lagausie P. Management of choledochal cyst: Evolution with antenatal diagnosis and laparoscopic approach. J Minim Access Surg. 2012 Oct;8(4):129-33. doi: 10.4103/0972-9941.103113. PubMed PMID: 23248439; PubMed Central PMCID: PMC3523449.
• Bauones S, Hoang H, Roman C, Hery G, Delarue A, Petit P, Gorincour G. Wandering liver: ultrasound and magnetic resonance imaging diagnosis. J Pediatr Surg. 2012 Nov;47(11):e21-5. doi: 10.1016/j.jpedsurg.2012.07.007. PubMed PMID: 23164025.
• Bailloud R, Bertin D, Roquelaure B, Roman C, Ballot E, Johanet C, Desplat-Jégo S. Anti-mitochondrial-2 antibodies (anti-PDC-E2): a marker for autoimmune hepatitis of children? Clin Res Hepatol Gastroenterol. 2012 Aug;36(4):e57-9. doi: 10.1016/j.clinre.2012.06.015. Epub 2012 Aug 9. PubMed PMID: 22883833.
• Chiaverini C, Sillard L, Flori E, Ito S, Briganti S, Wakamatsu K, Fontas E, Berard E, Cailliez M, Cochat P, Foulard M, Guest G, Niaudet P, Picardo M, Bernard FX, Antignac C, Ortonne JP, Ballotti R. Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 2012 Sep;26(9):3779-89. doi: 10.1096/fj.11-201376. Epub 2012 May 30. PubMed PMID: 22649030.
• Castinetti F, Reynaud R, Saveanu A, Barlier A, Brue T. Genetic causes of combined pituitary hormone deficiencies in humans. Ann Endocrinol (Paris). 2012 Apr;73(2):53-5. doi: 10.1016/j.ando.2012.03.025. Epub 2012 Apr 21. Review. PubMed PMID: 22521856.
• Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012 Jun;97(6):E1068-73. doi: 10.1210/jc.2011-3056. Epub 2012 Mar 30. PubMed PMID: 22466334.
• Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22. PubMed PMID: 22444670; PubMed Central PMCID: PMC3322239.
• Fabre A, Petit P, Gaudart J, Mas E, Vial J, Olives JP, Sarles J. Severity scores in children with acute pancreatitis. J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):266-7. doi: 10.1097/MPG.0b013e318254c1c7. PubMed PMID: 22437470. 
• Kadri M, Fabre A, Coze C, Daniel L, Petit P, Sigaudy S, Pinson S, Bouvier C, Delarue A, Fernandez C. [Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1]. Ann Pathol. 2012 Feb;32(1):58-64. doi: 10.1016/j.annpat.2011.10.007. Epub 2012 Jan 27. French. PubMed PMID: 22325315.
• Ludvigsson J, Krisky D, Casas R, Battelino T, Castaño L, Greening J, Kordonouri O, Otonkoski T, Pozzilli P, Robert JJ, Veeze HJ, Palmer J, Samuelsson U, Elding Larsson H, Åman J, Kärdell G, Neiderud Helsingborg J, Lundström G, Albinsson E, Carlsson A, Nordvall M, Fors H, Arvidsson CG, Edvardson S, Hanås R, Larsson K, Rathsman B, Forsgren H, Desaix H, Forsander G, Nilsson NÖ, Åkesson CG, Keskinen P, Veijola R, Talvitie T, Raile K, Kapellen T, Burger W, Neu A, Engelsberger I, Heidtmann B, Bechtold S, Leslie D, Chiarelli F, Cicognani A, Chiumello G, Cerutti F, Zuccotti GV, Gomez Gila A, Rica I, Barrio R, Clemente M, López Garcia MJ, Rodriguez M, Gonzalez I, Lopez JP, Oyarzabal M, Reeser HM, Nuboer R, Stouthart P, Bratina N, Bratanic N, de Kerdanet M, Weill J, Ser N, Barat P, Bertrand AM, Carel JC, Reynaud R, Coutant R, Baron S. GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med. 2012 Feb 2;366(5):433-42. doi: 10.1056/NEJMoa1107096. PubMed PMID: 22296077.
• Motte A, Roquelaure B, Galambrun C, Bernard F, Zandotti C, Colson P. Hepatitis E in three immunocompromized children in southeastern France. J Clin Virol. 2012 Feb;53(2):162-6. doi: 10.1016/j.jcv.2011.11.012. Epub 2011 Dec 16. PubMed PMID: 22177988.
• Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. PubMed PMID: 22167277.
• Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T. Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections. J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8. doi: 10.1210/jc.2011-0407. Epub 2011 Oct 19. PubMed PMID: 22013103.
• Baudouin V, Alberti C, Lapeyraque AL, Bensman A, André JL, Broux F, Cailliez M, Decramer S, Niaudet P, Deschênes G, Jacqz-Aigrain E, Loirat C. Mycophenolate mofetil for steroid-dependent nephrotic syndrome: a phase II Bayesian trial. Pediatr Nephrol. 2012 Mar;27(3):389-96. doi: 10.1007/s00467-011-2006-7. Epub 2011 Sep 28. PubMed PMID: 21947272.